Varaico: Literature-Extracted Genetic Variants

MAPKAP1

118 papers

RefSeq Summary

This gene encodes a protein that is highly similar to the yeast SIN1 protein, a stress-activated protein kinase. Alternatively spliced transcript variants encoding distinct isoforms have been describe...

Pfam Domains

SIN1aa 18–129UCSCStress-activated map kinase interacting protein 1 (SIN1)

CRIMaa 139–276UCSCSAPK-interacting protein 1 (Sin1), middle CRIM domain

RBD_SIN1aa 286–353UCSCSIN1 Ras-binding domain

SIN1_PHaa 381–488UCSCSAPK-interacting protein 1 (Sin1), Pleckstrin-homology

Gene Aliases

HGNC Name

MAPK associated protein 1

HGNC Alias Symbols

MGC2745; SIN1; MIP1

Papers

RefSeq ID

Protein change

DNA change

1–12 of 71 variants

5 papers

NM_001006617.3

p.S75N

c.224G>A

2 papers

NM_001006617.3

p.R81T

c.242G>C

2 papers

NM_001006617.3

p.T86S

c.256A>T

2 papers

NM_001006617.3

p.K222M

c.665A>T

2 papers

NM_001006617.3

p.S260N

c.779G>A

2 papers

NM_001006617.3

p.S491N

c.1472G>A

1 paper

NM_001006617.3

p.M1T

c.2T>C

1 paper

NM_001006617.3

p.M1I

c.3G>A

1 paper

NM_001006617.3

p.F3Y

c.8T>A

1 paper

NM_001006617.3

p.T8A

c.22A>G

1 paper

NM_001006617.3

p.M29K

c.86T>A

1 paper

NM_001006617.3

p.D33A

c.98A>C